I95V (p.Ile95Val) variant of SLC8A1 (Sodium/calcium exchanger 1)
I95V (p.Ile95Val) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
I95V (p.Ile95Val) variant details
- p.Ile95Val
- rs140571640
- ClinGen CA1627780
- ClinVar RCV004296274
- 1000Genomes rs140571640
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.17
- SIFT 0.21
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available