D36N (p.Asp36Asn) variant of CNTNAP2 (Q9UHC6)
D36N (p.Asp36Asn) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D36N (p.Asp36Asn) variant details
- p.Asp36Asn
- gnomAD 7-146774279-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.40
- MetaLR 0.59
- MetaSVM 0.20
- CADD 23.40
- PolyPhen-2 0.43
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available