N34S (p.Asn34Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
N34S (p.Asn34Ser) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- ExAC rs747609310
- gnomAD rs747609310
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.12
- MetaLR 0.28
- MetaSVM -0.88
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.61
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available