S26F (p.Ser26Phe) variant of SHANK1 (Q9Y566)
S26F (p.Ser26Phe) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S26F (p.Ser26Phe) variant details
- p.Ser26Phe
- cosmic curated COSV10512
- ExAC rs758265167
- gnomAD rs758265167
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -0.88
- CADD 27.50
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available