L14R (p.Leu14Arg) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
L14R (p.Leu14Arg) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- 1000Genomes rs556861051
- ExAC rs556861051
- gnomAD rs556861051
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.12
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-05)
- Structural context available