V25A (p.Val25Ala) variant of TRPM4 (Q8TD43)
V25A (p.Val25Ala) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V25A (p.Val25Ala) variant details
- p.Val25Ala
- gnomAD 19-49158241-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0958
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available