N4D (p.Asn4Asp) variant of COL5A2 (Collagen alpha-2(V) chain)
N4D (p.Asn4Asp) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N4D (p.Asn4Asp) variant details
- p.Asn4Asp
- rs1426460695
- ClinGen CA349986349
- ClinVar RCV003760633
- TOPMed rs1426460695
- Likely benign
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.12
- AlphaMissense 0.09
- MetaLR 0.35
- MetaSVM -0.77
- CADD 19.40
- PolyPhen-2 0.04
- ClinVar: Likely benign (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)