K56R (p.Lys56Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
K56R (p.Lys56Arg) 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.
K56R (p.Lys56Arg) variant details
- p.Lys56Arg
- gnomAD rs1226026683
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available