R133S (p.Arg133Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
R133S (p.Arg133Ser) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R133S (p.Arg133Ser) variant details
- p.Arg133Ser
- gnomAD rs1366081032
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available