A12T (p.Ala12Thr) variant of FKRP (Q9H9S5)
A12T (p.Ala12Thr) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD 19-46755484-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.46
- CADD 21.80
- PolyPhen-2 0.19
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available