P4R (p.Pro4Arg) variant of TRPM4 (Q8TD43)
P4R (p.Pro4Arg) 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 0.24 / 1. The record also includes population frequency data and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- rs1318656879
- ClinGen CA406787663
- ClinVar RCV000700318
- ClinVar RCV001592896
- Uncertain significance
- Progressive familial heart block type IB; Erythrokeratodermia variabilis et prog
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Progressive familial heart block type IB; Erythrokeratodermia va)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available