S20G (p.Ser20Gly) variant of CNTNAP2 (Q9UHC6)
S20G (p.Ser20Gly) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- gnomAD 7-146116934-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.18
- MetaLR 0.35
- MetaSVM -0.72
- CADD 14.30
- PolyPhen-2 0.11
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available