E85V (p.Glu85Val) variant of COL1A1 (Collagen alpha-1(I) chain)
E85V (p.Glu85Val) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E85V (p.Glu85Val) variant details
- p.Glu85Val
- ExAC rs766870668
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available