I131F (p.Ile131Phe) variant of KCNMA1 (Q12791)
I131F (p.Ile131Phe) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
I131F (p.Ile131Phe) variant details
- p.Ile131Phe
- 1000Genomes rs541069424
- ExAC rs541069424
- TOPMed rs541069424
- gnomAD rs541069424
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.14
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)