V25G (p.Val25Gly) variant of TRPM4 (Q8TD43)
V25G (p.Val25Gly) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar 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 0.14 / 1. The record also includes population frequency data and structural context.
V25G (p.Val25Gly) variant details
- p.Val25Gly
- Ensembl rs2041554868
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available