S40S (p.Ser40Ser) variant of ZRSR2 (Q15696)
S40S (p.Ser40Ser) in ZRSR2 (Q15696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S40S (p.Ser40Ser) variant details
- p.Ser40Ser
- gnomAD X-15791012-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 22.10
- Population evidence available
- Structural context available
- Literature evidence available