P39S (p.Pro39Ser) variant of FKRP (Q9H9S5)
P39S (p.Pro39Ser) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- rs772667330
- ClinGen CA9532113
- cosmic curated COSV59360
- ClinVar RCV001923157
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.25
- CADD 1.02
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available