P11A (p.Pro11Ala) variant of SLC8A1 (Sodium/calcium exchanger 1)
P11A (p.Pro11Ala) 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.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- gnomAD rs1311147797
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.06
- CADD 13.20
- PolyPhen-2 0.19
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available