V131F (p.Val131Phe) variant of COL11A1 (Collagen alpha-1(XI) chain)
V131F (p.Val131Phe) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V131F (p.Val131Phe) variant details
- p.Val131Phe
- rs1158320165
- NCI-TCGA Cosmic COSV6219
- cosmic curated COSV62195
- TOPMed rs1158320165
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 25.30
- PolyPhen-2 0.83
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available