F137S (p.Phe137Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
F137S (p.Phe137Ser) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
F137S (p.Phe137Ser) variant details
- p.Phe137Ser
- ExAC rs769960670
- TOPMed rs769960670
- gnomAD rs769960670
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available