A126V (p.Ala126Val) variant of HNRNPU (Q00839)
A126V (p.Ala126Val) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A126V (p.Ala126Val) variant details
- p.Ala126Val
- gnomAD rs1354383547
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available