Q7P (p.Gln7Pro) variant of FKRP (Q9H9S5)
Q7P (p.Gln7Pro) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q7P (p.Gln7Pro) variant details
- p.Gln7Pro
- gnomAD 19-46755470-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.59
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available