L14F (p.Leu14Phe) variant of COL11A1 (Collagen alpha-1(XI) chain)
L14F (p.Leu14Phe) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- Ensembl rs1674860322
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available