K13R (p.Lys13Arg) variant of TRPM4 (Q8TD43)
K13R (p.Lys13Arg) 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; Progressive familial heart block type IB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- rs767972673
- ClinGen CA406787888
- ClinVar RCV001922819
- ClinVar RCV003303336
- Uncertain significance
- Cardiovascular phenotype; Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 26.40
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Progressive familial heart block type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available