A36S (p.Ala36Ser) variant of FKRP (Q9H9S5)
A36S (p.Ala36Ser) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- rs1412050261
- ClinGen CA406494678
- ClinVar RCV001241301
- ClinVar RCV001828973
- Uncertain significance
- Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.26
- CADD 4.00
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Uncertain significance (Cardiovascular phenotype; Walker-Warburg congenital muscular dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available