I131V (p.Ile131Val) variant of KCNMA1 (Q12791)
I131V (p.Ile131Val) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
I131V (p.Ile131Val) variant details
- p.Ile131Val
- 1000Genomes rs541069424
- ExAC rs541069424
- TOPMed rs541069424
- gnomAD rs541069424
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.06
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the 1KG:CHS population (allele frequency 0.0049)