A30T (p.Ala30Thr) variant of PLP1 (Myelin proteolipid protein)
A30T (p.Ala30Thr) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD rs1372739626
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available