T110M (p.Thr110Met) variant of KCNMA1 (Q12791)
T110M (p.Thr110Met) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
T110M (p.Thr110Met) variant details
- p.Thr110Met
- ExAC rs772934866
- gnomAD rs772934866
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.30
- CADD 24.70
- PolyPhen-2 0.47
- SIFT 0.25
- Most common in the South Asian population (allele frequency 1.2e-05)