W13C (p.Trp13Cys) variant of COL11A1 (Collagen alpha-1(XI) chain)
W13C (p.Trp13Cys) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
W13C (p.Trp13Cys) variant details
- p.Trp13Cys
- ExAC rs762034138
- gnomAD rs762034138
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 23.30
- PolyPhen-2 0.34
- SIFT 0.18
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available