R40C (p.Arg40Cys) variant of FKRP (Q9H9S5)
R40C (p.Arg40Cys) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- gnomAD 19-46755568-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.37
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available