C33S (p.Cys33Ser) variant of PLP1 (Myelin proteolipid protein)
C33S (p.Cys33Ser) 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, published literature, and structural context.
C33S (p.Cys33Ser) variant details
- p.Cys33Ser
- gnomAD X-103785675-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available