R24G (p.Arg24Gly) variant of KCNMA1 (Q12791)
R24G (p.Arg24Gly) in KCNMA1 (Q12791) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- TOPMed rs1350886458
- gnomAD rs1350886458
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 24.90
- PolyPhen-2 0.11
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.4e-06)