P4S (p.Pro4Ser) variant of TRPM4 (Q8TD43)
P4S (p.Pro4Ser) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Progressive familial heart block type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs1280227892
- ClinGen CA406787655
- ClinVar RCV002036852
- ClinVar RCV005764579
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Progressive familial heart block type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 4.34
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Progressive familial he)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available