P11S (p.Pro11Ser) variant of SLC8A1 (Sodium/calcium exchanger 1)
P11S (p.Pro11Ser) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- cosmic curated COSV10519
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.05
- CADD 14.60
- PolyPhen-2 0.19
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available