D41V (p.Asp41Val) variant of COL3A1 (Collagen alpha-1(III) chain)
D41V (p.Asp41Val) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D41V (p.Asp41Val) variant details
- p.Asp41Val
- gnomAD 2-188984802-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.33
- MetaLR 0.35
- MetaSVM -0.32
- CADD 24.60
- PolyPhen-2 0.34
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available