M15V (p.Met15Val) variant of SLC8A1 (Sodium/calcium exchanger 1)
M15V (p.Met15Val) 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 0.08 / 1. The record also includes population frequency data and structural context.
M15V (p.Met15Val) variant details
- p.Met15Val
- ExAC rs780349585
- TOPMed rs780349585
- gnomAD rs780349585
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0796
- REVEL 0.03
- CADD 2.07
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available