D36Y (p.Asp36Tyr) variant of CNTNAP2 (Q9UHC6)
D36Y (p.Asp36Tyr) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D36Y (p.Asp36Tyr) variant details
- p.Asp36Tyr
- gnomAD 7-146774279-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.71
- MetaLR 0.79
- MetaSVM 0.69
- CADD 27.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available