V2A (p.Val2Ala) variant of TRPM4 (Q8TD43)
V2A (p.Val2Ala) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V2A (p.Val2Ala) variant details
- p.Val2Ala
- gnomAD rs1340472576
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available