A48T (p.Ala48Thr) variant of TRPM4 (Q8TD43)
A48T (p.Ala48Thr) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- gnomAD 19-49166090-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 24.70
- PolyPhen-2 0.63
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available