P47S (p.Pro47Ser) variant of FKRP (Q9H9S5)
P47S (p.Pro47Ser) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- TOPMed rs2054892039
- gnomAD rs2054892039
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.49
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available