R67S (p.Arg67Ser) variant of FHL1 (Q13642)
R67S (p.Arg67Ser) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R67S (p.Arg67Ser) variant details
- p.Arg67Ser
- rs1343871742
- gnomAD X-136207034-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.90
- AlphaMissense 0.91
- MetaLR 0.74
- MetaSVM 0.57
- CADD 26.60
- PolyPhen-2 0.99
- Most common in the East Asian population (allele frequency 0.00029)
- Structural context available
- Literature evidence available