A2P (p.Ala2Pro) variant of KCNMA1 (Q12791)
A2P (p.Ala2Pro) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KCNMA1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- rs1344908173
- ClinGen CA377412962
- ClinVar RCV004552571
- Uncertain significance
- KCNMA1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.30
- MetaLR 0.29
- MetaSVM -0.75
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.14
- ClinVar: Uncertain significance (KCNMA1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance