S43T (p.Ser43Thr) variant of KCNMA1 (Q12791)
S43T (p.Ser43Thr) 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 0.38 / 1.
S43T (p.Ser43Thr) variant details
- p.Ser43Thr
- rs1057519135
- ClinGen CA16043774
- ClinVar RCV000416228
- Ensembl rs1057519135
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- AlphaMissense 0.10
- MetaLR 0.25
- MetaSVM -0.83
- PolyPhen-2 0.01
- SIFT 0.20
- MutPred 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance