P12R (p.Pro12Arg) variant of TRPM4 (Q8TD43)
P12R (p.Pro12Arg) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- ExAC rs760102851
- gnomAD rs760102851
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.33
- CADD 27.30
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available