V63I (p.Val63Ile) variant of COL5A2 (Collagen alpha-2(V) chain)
V63I (p.Val63Ile) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V63I (p.Val63Ile) variant details
- p.Val63Ile
- ExAC rs767590090
- gnomAD rs767590090
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.37
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available