A44T (p.Ala44Thr) variant of FKRP (Q9H9S5)
A44T (p.Ala44Thr) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- gnomAD 19-46755580-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.21
- CADD 3.32
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available