Q8L (p.Gln8Leu) variant of TRPM4 (Q8TD43)
Q8L (p.Gln8Leu) 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; Erythrokeratodermia variabilis et prog. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q8L (p.Gln8Leu) variant details
- p.Gln8Leu
- rs1057522811
- ClinGen CA16608288
- ClinVar RCV000440150
- ClinVar RCV002506057
- Uncertain significance
- Progressive familial heart block type IB; Erythrokeratodermia variabilis et prog
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 24.70
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Uncertain significance (Progressive familial heart block type IB; Erythrokeratodermia va)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available