V2L (p.Val2Leu) variant of TRPM4 (Q8TD43)
V2L (p.Val2Leu) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V2L (p.Val2Leu) variant details
- p.Val2Leu
- TOPMed rs1326898712
- gnomAD rs1326898712
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available