S6F (p.Ser6Phe) variant of COL11A1 (Collagen alpha-1(XI) chain)
S6F (p.Ser6Phe) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- 1000Genomes rs528624430
- ExAC rs528624430
- gnomAD rs528624430
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.09
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available