N74D (p.Asn74Asp) variant of COL6A3 (Collagen alpha-3(VI) chain)
N74D (p.Asn74Asp) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N74D (p.Asn74Asp) variant details
- p.Asn74Asp
- gnomAD rs1241538370
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.17
- MetaLR 0.21
- MetaSVM -0.96
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available