L14V (p.Leu14Val) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
L14V (p.Leu14Val) 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 0.24 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- cosmic curated COSV53803
- 1000Genomes rs578220839
- ExAC rs578220839
- gnomAD rs578220839
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.07
- CADD 21.50
- PolyPhen-2 0.16
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available