R40H (p.Arg40His) variant of FKRP (Q9H9S5)
R40H (p.Arg40His) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies). The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R40H (p.Arg40His) variant details
- p.Arg40His
- rs2054891509
- ClinGen CA406494700
- ClinVar RCV001563920
- ClinVar RCV001563921
- Uncertain significance
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.33
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Muscular dystrophy-dystroglycanopathy (congenital with brain and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)