S35I (p.Ser35Ile) variant of KCNMA1 (Q12791)
S35I (p.Ser35Ile) in KCNMA1 (Q12791) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
S35I (p.Ser35Ile) variant details
- p.Ser35Ile
- TOPMed rs988230623
- gnomAD rs988230623
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.36
- CADD 24.00
- PolyPhen-2 0.07
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)