S20S (p.Ser20Ser) variant of PANK2 (Q9BZ23)
S20S (p.Ser20Ser) in PANK2 (Q9BZ23) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S20S (p.Ser20Ser) variant details
- p.Ser20Ser
- rs1224931248
- gnomAD 20-3889160-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0911
- CADD 1.47
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available