D84H (p.Asp84His) variant of COL5A2 (Collagen alpha-2(V) chain)
D84H (p.Asp84His) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D84H (p.Asp84His) variant details
- p.Asp84His
- rs745528957
- ClinGen CA2023170
- ClinVar RCV000523952
- ClinVar RCV002525195
- Conflicting interpretations
- not provided; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.06
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Ehlers-Danlos syndrome, classic type, 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)