K119R (p.Lys119Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
K119R (p.Lys119Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K119R (p.Lys119Arg) variant details
- p.Lys119Arg
- ExAC rs758569692
- gnomAD rs758569692
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.20
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available