L34S (p.Leu34Ser) variant of TRPM4 (Q8TD43)
L34S (p.Leu34Ser) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L34S (p.Leu34Ser) variant details
- p.Leu34Ser
- gnomAD 19-49166049-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available