L22F (p.Leu22Phe) variant of COL11A1 (Collagen alpha-1(XI) chain)
L22F (p.Leu22Phe) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- TOPMed rs1327862186
- gnomAD rs1327862186
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available