V62I (p.Val62Ile) variant of COL1A1 (Collagen alpha-1(I) chain)
V62I (p.Val62Ile) 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.
V62I (p.Val62Ile) variant details
- p.Val62Ile
- ESP rs146431113
- ExAC rs146431113
- gnomAD rs146431113
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available