I38V (p.Ile38Val) variant of COL1A1 (Collagen alpha-1(I) chain)
I38V (p.Ile38Val) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I38V (p.Ile38Val) variant details
- p.Ile38Val
- gnomAD rs1324365921
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 8.81
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available