R9T (p.Arg9Thr) variant of PLP1 (Myelin proteolipid protein)
R9T (p.Arg9Thr) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R9T (p.Arg9Thr) variant details
- p.Arg9Thr
- gnomAD X-103785603-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 24.80
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available