A84V (p.Ala84Val) variant of COL1A1 (Collagen alpha-1(I) chain)
A84V (p.Ala84Val) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- ExAC rs775095655
- TOPMed rs775095655
- gnomAD rs775095655
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.36
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available