P5P (p.Pro5Pro) variant of CNTNAP2 (Q9UHC6)
P5P (p.Pro5Pro) in CNTNAP2 (Q9UHC6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P5P (p.Pro5Pro) variant details
- p.Pro5Pro
- rs1180036875
- gnomAD 7-146116891-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 13.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available