P30S (p.Pro30Ser) variant of TRPM4 (Q8TD43)
P30S (p.Pro30Ser) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- gnomAD rs1231819815
- Missense
- Variant Prioritization Score for Impact Estimate 0.0594
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available