A2P (p.Ala2Pro) variant of FHL1 (Q13642)
A2P (p.Ala2Pro) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- rs1472956545
- gnomAD X-136196827-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 17.40
- Most common in the Middle Eastern population (allele frequency 0.00026)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score 0.422
- Literature evidence available