L14P (p.Leu14Pro) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
L14P (p.Leu14Pro) 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 0.22 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- cosmic curated COSV53803
- 1000Genomes rs556861051
- ExAC rs556861051
- gnomAD rs556861051
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.20
- CADD 23.60
- PolyPhen-2 0.50
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available