A3V (p.Ala3Val) variant of ZRSR2 (Q15696)
A3V (p.Ala3Val) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD X-15790503-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.01
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available