T15N (p.Thr15Asn) variant of FKRP (Q9H9S5)
T15N (p.Thr15Asn) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T15N (p.Thr15Asn) variant details
- p.Thr15Asn
- gnomAD 19-46755494-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.37
- CADD 15.90
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available