L145S (p.Leu145Ser) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
L145S (p.Leu145Ser) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L145S (p.Leu145Ser) variant details
- p.Leu145Ser
- TOPMed rs1386636117
- gnomAD rs1386636117
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.19
- CADD 23.70
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available