I69V (p.Ile69Val) variant of COL5A2 (Collagen alpha-2(V) chain)
I69V (p.Ile69Val) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I69V (p.Ile69Val) variant details
- p.Ile69Val
- gnomAD rs1193774308
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.08
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available