S51T (p.Ser51Thr) variant of FHL1 (Q13642)
S51T (p.Ser51Thr) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S51T (p.Ser51Thr) variant details
- p.Ser51Thr
- rs745876962
- gnomAD X-136196821-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 18.40
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.487
- Literature evidence available