S51N (p.Ser51Asn) variant of FHL1 (Q13642)
S51N (p.Ser51Asn) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S51N (p.Ser51Asn) variant details
- p.Ser51Asn
- rs1490753415
- gnomAD X-136196852-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 18.10
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.487
- Literature evidence available