T42N (p.Thr42Asn) variant of TRPM4 (Q8TD43)
T42N (p.Thr42Asn) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
T42N (p.Thr42Asn) variant details
- p.Thr42Asn
- gnomAD 19-49166073-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0501
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available