A70T (p.Ala70Thr) variant of HNRNPA1 (P09651)
A70T (p.Ala70Thr) in HNRNPA1 (P09651) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A70T (p.Ala70Thr) variant details
- p.Ala70Thr
- ExAC rs751147157
- gnomAD rs751147157
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.18
- CADD 31.00
- PolyPhen-2 0.77
- SIFT 0.02
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available