T21K (p.Thr21Lys) variant of TRPM4 (Q8TD43)
T21K (p.Thr21Lys) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T21K (p.Thr21Lys) variant details
- p.Thr21Lys
- gnomAD 19-49158229-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.61
- ESM-1b 0.05
- AlphaMissense 0.40
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available