R109W (p.Arg109Trp) variant of KCNMA1 (Q12791)
R109W (p.Arg109Trp) in KCNMA1 (Q12791) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1.
R109W (p.Arg109Trp) variant details
- p.Arg109Trp
- rs1303770190
- NCI-TCGA Cosmic COSV9969
- cosmic curated COSV99699
- gnomAD rs1303770190
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 1.00
- MetaLR 0.23
- MetaSVM -0.76
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.67
- UniProt: Variant assessed as somatic; moderate impact.