A40D (p.Ala40Asp) variant of COL5A2 (Collagen alpha-2(V) chain)
A40D (p.Ala40Asp) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A40D (p.Ala40Asp) variant details
- p.Ala40Asp
- ExAC rs758092388
- gnomAD rs758092388
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.13
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available