G624D (p.Gly624Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G624D (p.Gly624Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic hearing loss; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G624D (p.Gly624Asp) variant details
- p.Gly624Asp
- rs104886142
- ClinGen CA258560
- cosmic curated COSV60364
- ClinVar RCV000021334
- Pathogenic/Likely pathogenic
- Monogenic hearing loss; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.91
- AlphaMissense 0.67
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic hearing loss; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available
- Cited in: Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. (PMID 11223851)
- Cited in: High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA… (PMID 9848783)