A20V (p.Ala20Val) variant of ZRSR2 (Q15696)
A20V (p.Ala20Val) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD rs1384197720
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available