V76L (p.Val76Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
V76L (p.Val76Leu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V76L (p.Val76Leu) variant details
- p.Val76Leu
- ExAC rs774327003
- TOPMed rs774327003
- gnomAD rs774327003
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.22
- ESM-1b 0.79
- AlphaMissense 0.44
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available