T64S (p.Thr64Ser) variant of FHL1 (Q13642)
T64S (p.Thr64Ser) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T64S (p.Thr64Ser) variant details
- p.Thr64Ser
- gnomAD X-136206548-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.48
- CADD 20.10
- PolyPhen-2 0.05
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available