I14N (p.Ile14Asn) variant of FKRP (Q9H9S5)
I14N (p.Ile14Asn) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
I14N (p.Ile14Asn) variant details
- p.Ile14Asn
- TOPMed rs2054889065
- gnomAD rs2054889065
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.83
- CADD 26.60
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available