D39N (p.Asp39Asn) variant of KCNE1 (P15382)
D39N (p.Asp39Asn) in KCNE1 (P15382) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes experimental measurements, published literature, and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- rs199473352
- ClinGen CA231692
- ClinVar RCV000119064
- ClinVar RCV004777577
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.72
- MetaSVM -0.33
- MutPred 0.49
- ClinVar: not provided (not provided)
- UniProt: Not provided
- Structural context available
- Functional MAVE scores for KCNE1: score 1.33
- Cited in: Long QT Syndrome Overview. (PMID 20301308)