C21F (p.Cys21Phe) variant of CNTNAP2 (Q9UHC6)
C21F (p.Cys21Phe) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C21F (p.Cys21Phe) variant details
- p.Cys21Phe
- gnomAD 7-146116938-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.24
- MetaLR 0.41
- MetaSVM -0.76
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available