N61S (p.Asn61Ser) variant of KCNJ5 (P48544)
N61S (p.Asn61Ser) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KCNJ5-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
N61S (p.Asn61Ser) variant details
- p.Asn61Ser
- rs2497722474
- ClinGen CA383246409
- ClinVar RCV003894141
- Uncertain significance
- KCNJ5-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.93
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (KCNJ5-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available