A23V (p.Ala23Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
A23V (p.Ala23Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD rs1674856776
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available