P13P (p.Pro13Pro) variant of FHL1 (Q13642)
P13P (p.Pro13Pro) in FHL1 (Q13642) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P13P (p.Pro13Pro) variant details
- p.Pro13Pro
- rs1270437936
- gnomAD X-136196859-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 9.83
- Most common in the HGDP:MOZABITE population (allele frequency 0.031)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.263
- Literature evidence available