I105L (p.Ile105Leu) variant of KCNMA1 (Q12791)
I105L (p.Ile105Leu) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
I105L (p.Ile105Leu) variant details
- p.Ile105Leu
- gnomAD rs200933516
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.11
- CADD 24.10
- PolyPhen-2 0.47
- SIFT 0.72
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)