H8N (p.His8Asn) variant of FHL1 (Q13642)
H8N (p.His8Asn) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H8N (p.His8Asn) variant details
- p.His8Asn
- gnomAD X-136197128-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.03
- CADD 11.10
- PolyPhen-2 0.03
- SIFT 0.04
- 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 -0.0023
- Literature evidence available