V152L (p.Val152Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V152L (p.Val152Leu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V152L (p.Val152Leu) variant details
- p.Val152Leu
- rs760117543
- ClinGen CA112859935
- ClinVar RCV002717346
- ExAC rs760117543
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.11
- CADD 9.54
- PolyPhen-2 0.04
- SIFT 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available