D30G (p.Asp30Gly) variant of COL5A2 (Collagen alpha-2(V) chain)
D30G (p.Asp30Gly) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D30G (p.Asp30Gly) variant details
- p.Asp30Gly
- TOPMed rs892085408
- gnomAD rs892085408
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.28
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available