I21V (p.Ile21Val) variant of COL3A1 (Collagen alpha-1(III) chain)
I21V (p.Ile21Val) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- gnomAD 2-188974550-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.20
- MetaLR 0.43
- MetaSVM -0.70
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available