S50Y (p.Ser50Tyr) variant of COL11A1 (Collagen alpha-1(XI) chain)
S50Y (p.Ser50Tyr) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S50Y (p.Ser50Tyr) variant details
- p.Ser50Tyr
- Ensembl rs1672530176
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available