G16S (p.Gly16Ser) variant of FHL1 (Q13642)
G16S (p.Gly16Ser) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- rs370725689
- gnomAD X-136197134-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.18
- CADD 18.80
- PolyPhen-2 0.73
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00016)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.505
- Literature evidence available