A70V (p.Ala70Val) variant of HNRNPA1 (P09651)
A70V (p.Ala70Val) in HNRNPA1 (P09651) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- Ensembl rs1225931732
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.15
- CADD 29.80
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available