P40S (p.Pro40Ser) variant of TRPM4 (Q8TD43)
P40S (p.Pro40Ser) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- gnomAD 19-49166066-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.13
- ESM-1b 0.22
- AlphaMissense 0.08
- CADD 8.87
- PolyPhen-2 0.12
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available