V99I (p.Val99Ile) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V99I (p.Val99Ile) 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 0.35 / 1. The record also includes population frequency data and structural context.
V99I (p.Val99Ile) variant details
- p.Val99Ile
- rs147688367
- ClinGen CA3176375
- cosmic curated COSV53801
- ClinVar RCV003109000
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.08
- CADD 21.60
- PolyPhen-2 0.34
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00022)
- Structural context available