R30C (p.Arg30Cys) variant of ZRSR2 (Q15696)
R30C (p.Arg30Cys) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- gnomAD X-15790980-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.18
- MetaLR 0.55
- MetaSVM -0.05
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available