N76K (p.Asn76Lys) variant of COL1A2 (Collagen alpha-2(I) chain)
N76K (p.Asn76Lys) in COL1A2 (Collagen alpha-2(I) 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.
N76K (p.Asn76Lys) variant details
- p.Asn76Lys
- gnomAD rs1429627184
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.47
- CADD 23.00
- PolyPhen-2 0.86
- SIFT 0.05
- Population evidence available
- Structural context available