P62L (p.Pro62Leu) variant of SLC8A1 (Sodium/calcium exchanger 1)
P62L (p.Pro62Leu) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- gnomAD rs1338732026
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.58
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available