Q56Q (p.Gln56Gln) variant of PLP1 (Myelin proteolipid protein)
Q56Q (p.Gln56Gln) in PLP1 (Myelin proteolipid protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q56Q (p.Gln56Gln) variant details
- p.Gln56Gln
- rs2233697
- gnomAD X-103785745-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 9.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Human-specific protein isoforms produced by novel splice sites in the human genome after the human-chimpanzee… (PMID 23148531)
- Cited in: ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. (PMID 18414213)