E71K (p.Glu71Lys) variant of COL3A1 (Collagen alpha-1(III) chain)
E71K (p.Glu71Lys) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E71K (p.Glu71Lys) variant details
- p.Glu71Lys
- gnomAD rs1688032354
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.00
- CADD 15.30
- PolyPhen-2 0.04
- SIFT 0.97
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available