V81L (p.Val81Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V81L (p.Val81Leu) 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 0.17 / 1. The record also includes population frequency data and structural context.
V81L (p.Val81Leu) variant details
- p.Val81Leu
- TOPMed rs1409190584
- gnomAD rs1409190584
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.03
- CADD 12.20
- PolyPhen-2 0.18
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available