G29D (p.Gly29Asp) variant of KCNE1 (P15382)
G29D (p.Gly29Asp) in KCNE1 (P15382) 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 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G29D (p.Gly29Asp) variant details
- p.Gly29Asp
- rs1555844239
- ClinGen CA410198499
- NCI-TCGA Cosmic COSV6160
- cosmic curated COSV61607
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 12.10
- PolyPhen-2 0.08
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.37
- Cited in: Long QT Syndrome Overview. (PMID 20301308)