S33A (p.Ser33Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
S33A (p.Ser33Ala) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S33A (p.Ser33Ala) variant details
- p.Ser33Ala
- gnomAD 2-188984777-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.06
- MetaLR 0.19
- MetaSVM -0.87
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available