G46S (p.Gly46Ser) variant of FKRP (Q9H9S5)
G46S (p.Gly46Ser) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- cosmic curated COSV59358
- gnomAD rs1216050476
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.28
- CADD 7.73
- PolyPhen-2 0.00
- SIFT 0.98
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available