V90M (p.Val90Met) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V90M (p.Val90Met) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V90M (p.Val90Met) variant details
- p.Val90Met
- rs191669572
- ClinGen CA3176380
- cosmic curated COSV10960
- ClinVar RCV002187617
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.04
- CADD 18.90
- PolyPhen-2 0.20
- SIFT 0.06
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DAI population (allele frequency 0.056)
- Structural context available