A38S (p.Ala38Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
A38S (p.Ala38Ser) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- TOPMed rs1224533621
- gnomAD rs1224533621
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.54
- MetaLR 0.55
- MetaSVM -0.07
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available