M15I (p.Met15Ile) variant of SLC8A1 (Sodium/calcium exchanger 1)
M15I (p.Met15Ile) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
M15I (p.Met15Ile) variant details
- p.Met15Ile
- TOPMed rs1253383021
- gnomAD rs1253383021
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.04
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available