P13S (p.Pro13Ser) variant of FHL1 (Q13642)
P13S (p.Pro13Ser) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- gnomAD X-136206409-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.13
- CADD 15.20
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.263
- Literature evidence available