P11L (p.Pro11Leu) variant of SLC8A1 (Sodium/calcium exchanger 1)
P11L (p.Pro11Leu) 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.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- ExAC rs761802445
- gnomAD rs761802445
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.12
- CADD 22.10
- PolyPhen-2 0.33
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available