L22R (p.Leu22Arg) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
L22R (p.Leu22Arg) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L22R (p.Leu22Arg) variant details
- p.Leu22Arg
- gnomAD rs1294352511
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.12
- CADD 17.10
- PolyPhen-2 0.28
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 6.9e-05)
- Structural context available