S22R (p.Ser22Arg) variant of KCNMA1 (Q12791)
S22R (p.Ser22Arg) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- rs2154572179
- ClinGen CA377412840
- ClinVar RCV002211151
- Ensembl rs2154572179
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)