N32I (p.Asn32Ile) variant of KCNMA1 (Q12791)
N32I (p.Asn32Ile) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
N32I (p.Asn32Ile) variant details
- p.Asn32Ile
- rs199570594
- ClinGen CA210159553
- ClinVar RCV001754074
- Ensembl rs199570594
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.41
- CADD 24.40
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)