P121L (p.Pro121Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
P121L (p.Pro121Leu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P121L (p.Pro121Leu) variant details
- p.Pro121Leu
- gnomAD rs1248713108
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.50
- CADD 24.70
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available