S41Y (p.Ser41Tyr) variant of CNTNAP2 (Q9UHC6)
S41Y (p.Ser41Tyr) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S41Y (p.Ser41Tyr) variant details
- p.Ser41Tyr
- gnomAD 7-146774295-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.55
- MetaLR 0.66
- MetaSVM 0.41
- CADD 22.70
- PolyPhen-2 0.42
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available