S51S (p.Ser51Ser) variant of FHL1 (Q13642)
S51S (p.Ser51Ser) in FHL1 (Q13642) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S51S (p.Ser51Ser) variant details
- p.Ser51Ser
- rs1401608328
- gnomAD X-136196853-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 18.70
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.487
- Literature evidence available