S113F (p.Ser113Phe) variant of COL11A1 (Collagen alpha-1(XI) chain)
S113F (p.Ser113Phe) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S113F (p.Ser113Phe) variant details
- p.Ser113Phe
- ExAC rs753510370
- gnomAD rs753510370
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.70
- CADD 25.10
- PolyPhen-2 0.73
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available