F137V (p.Phe137Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
F137V (p.Phe137Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
F137V (p.Phe137Val) variant details
- p.Phe137Val
- rs889868652
- ClinGen CA27754585
- ClinVar RCV002770791
- TOPMed rs889868652
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available