P40L (p.Pro40Leu) variant of TRPM4 (Q8TD43)
P40L (p.Pro40Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- rs777131422
- ClinGen CA9568696
- ClinVar RCV003817474
- ExAC rs777131422
- Uncertain significance
- Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Progressive familial heart block type IB)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available