T49A (p.Thr49Ala) variant of PLP1 (Myelin proteolipid protein)
T49A (p.Thr49Ala) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- gnomAD X-103785722-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available