V25I (p.Val25Ile) variant of TRPM4 (Q8TD43)
V25I (p.Val25Ile) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V25I (p.Val25Ile) variant details
- p.Val25Ile
- Ensembl rs2122725747
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.38
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available