K34T (p.Lys34Thr) variant of FHL1 (Q13642)
K34T (p.Lys34Thr) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K34T (p.Lys34Thr) variant details
- p.Lys34Thr
- rs1370793393
- gnomAD X-136206497-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.62
- AlphaMissense 0.90
- MetaLR 0.78
- MetaSVM 0.66
- CADD 23.30
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -1.16
- Literature evidence available