D64V (p.Asp64Val) variant of COL1A1 (Collagen alpha-1(I) chain)
D64V (p.Asp64Val) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D64V (p.Asp64Val) variant details
- p.Asp64Val
- gnomAD rs1370920704
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 25.00
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available