A2S (p.Ala2Ser) variant of FHL1 (Q13642)
A2S (p.Ala2Ser) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD X-136196818-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 17.40
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score 0.422
- Literature evidence available