S20T (p.Ser20Thr) variant of CNTNAP2 (Q9UHC6)
S20T (p.Ser20Thr) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S20T (p.Ser20Thr) variant details
- p.Ser20Thr
- gnomAD 7-146116935-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.26
- MetaLR 0.43
- MetaSVM -0.23
- CADD 20.50
- PolyPhen-2 0.11
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available