A67V (p.Ala67Val) variant of HNRNPU (Q00839)
A67V (p.Ala67Val) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A67V (p.Ala67Val) variant details
- p.Ala67Val
- gnomAD rs1383375662
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available