N94K (p.Asn94Lys) variant of COL6A3 (Collagen alpha-3(VI) chain)
N94K (p.Asn94Lys) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
N94K (p.Asn94Lys) variant details
- p.Asn94Lys
- Ensembl rs2106388545
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.61
- MetaLR 0.44
- MetaSVM -0.41
- CADD 21.80
- PolyPhen-2 0.69
- SIFT 0.09
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available