C43S (p.Cys43Ser) variant of FHL1 (Q13642)
C43S (p.Cys43Ser) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C43S (p.Cys43Ser) variant details
- p.Cys43Ser
- gnomAD X-136206512-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.43
- CADD 21.40
- PolyPhen-2 0.07
- SIFT 0.28
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.149
- Literature evidence available