I105V (p.Ile105Val) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
I105V (p.Ile105Val) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar 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 0.15 / 1. The record also includes population frequency data and structural context.
I105V (p.Ile105Val) variant details
- p.Ile105Val
- ExAC rs746691223
- gnomAD rs746691223
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.04
- CADD 12.70
- PolyPhen-2 0.06
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.2e-05)
- Structural context available