H8H (p.His8His) variant of FHL1 (Q13642)
H8H (p.His8His) in FHL1 (Q13642) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H8H (p.His8His) variant details
- p.His8His
- rs758985965
- gnomAD X-136197124-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0833
- CADD 0.38
- Most common in the South Asian population (allele frequency 0.00038)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0023
- Literature evidence available