S43P (p.Ser43Pro) variant of ZRSR2 (Q15696)
S43P (p.Ser43Pro) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S43P (p.Ser43Pro) variant details
- p.Ser43Pro
- ExAC rs769474729
- TOPMed rs769474729
- gnomAD rs769474729
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.02
- CADD 8.60
- PolyPhen-2 0.22
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 0.00012)
- Structural context available