P32T (p.Pro32Thr) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
P32T (p.Pro32Thr) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P32T (p.Pro32Thr) variant details
- p.Pro32Thr
- TOPMed rs1165460854
- gnomAD rs1165460854
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.08
- CADD 11.20
- PolyPhen-2 0.13
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available