G102D (p.Gly102Asp) variant of COL5A2 (Collagen alpha-2(V) chain)
G102D (p.Gly102Asp) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G102D (p.Gly102Asp) variant details
- p.Gly102Asp
- rs151146283
- ClinGen CA2023157
- ClinVar RCV003318290
- ESP rs151146283
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.09
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available