I71T (p.Ile71Thr) variant of KCNMA1 (Q12791)
I71T (p.Ile71Thr) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
I71T (p.Ile71Thr) variant details
- p.Ile71Thr
- cosmic curated COSV54294
- TOPMed rs1404837982
- gnomAD rs1404837982
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 0.05
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)