R40G (p.Arg40Gly) variant of FKRP (Q9H9S5)
R40G (p.Arg40Gly) in FKRP (Q9H9S5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R40G (p.Arg40Gly) variant details
- p.Arg40Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.33
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available