N463S (p.Asn463Ser) variant of FKRP (Q9H9S5)
N463S (p.Asn463Ser) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
N463S (p.Asn463Ser) variant details
- p.Asn463Ser
- rs2122636612
- ClinGen CA406497263
- ClinVar RCV002040974
- Ensembl rs2122636612
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.77
- AlphaMissense 0.27
- MetaLR 0.98
- MetaSVM 1.06
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Likely pathogenic (in MDDGB5)
- UniProt: Likely pathogenic (in MDDGB5)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available