K48N (p.Lys48Asn) variant of COL2A1 (Collagen alpha-1(II) chain)
K48N (p.Lys48Asn) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- gnomAD rs1940159051
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.43
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available