C20S (p.Cys20Ser) variant of TRPM4 (Q8TD43)
C20S (p.Cys20Ser) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Progressive familial heart block type IB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
C20S (p.Cys20Ser) variant details
- p.Cys20Ser
- rs864622643
- ClinGen CA349108
- ClinVar RCV000204919
- ClinVar RCV000786236
- Uncertain significance
- not provided; Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Progressive familial heart block type IB)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available