P11H (p.Pro11His) variant of SLC8A1 (Sodium/calcium exchanger 1)
P11H (p.Pro11His) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P11H (p.Pro11His) variant details
- p.Pro11His
- ExAC rs761802445
- gnomAD rs761802445
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.17
- CADD 24.30
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available