E5K (p.Glu5Lys) variant of TRPM4 (Q8TD43)
E5K (p.Glu5Lys) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Progressive familial heart block type IB; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- rs999572673
- ClinGen CA309424822
- ClinVar RCV001307890
- ClinVar RCV003375202
- Uncertain significance
- Progressive familial heart block type IB; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Uncertain significance (Progressive familial heart block type IB; Cardiovascular phenoty)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available