K16T (p.Lys16Thr) variant of TRPM4 (Q8TD43)
K16T (p.Lys16Thr) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K16T (p.Lys16Thr) variant details
- p.Lys16Thr
- gnomAD 19-49158214-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.41
- CADD 24.10
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available