P45A (p.Pro45Ala) variant of TRPM4 (Q8TD43)
P45A (p.Pro45Ala) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P45A (p.Pro45Ala) variant details
- p.Pro45Ala
- gnomAD 19-49166081-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.95
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available