N58S (p.Asn58Ser) variant of FHL1 (Q13642)
N58S (p.Asn58Ser) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N58S (p.Asn58Ser) variant details
- p.Asn58Ser
- rs886043917
- gnomAD X-136206545-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.72
- AlphaMissense 0.20
- MetaLR 0.81
- MetaSVM 0.80
- CADD 25.10
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0722
- Literature evidence available