Q2K (p.Gln2Lys) variant of CNTNAP2 (Q9UHC6)
Q2K (p.Gln2Lys) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q2K (p.Gln2Lys) variant details
- p.Gln2Lys
- gnomAD 7-146116880-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.29
- MetaLR 0.41
- MetaSVM -0.91
- CADD 4.54
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available