T603A (p.Thr603Ala) variant of KCNMA1 (Q12791)
T603A (p.Thr603Ala) 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 0.45 / 1.
T603A (p.Thr603Ala) variant details
- p.Thr603Ala
- rs2094531972
- ClinGen CA377410098
- ClinVar RCV001300650
- Ensembl rs2094531972
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 0.89
- MetaLR 0.26
- MetaSVM -0.58
- PolyPhen-2 0.82
- SIFT 0.05
- EVE 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic