T79I (p.Thr79Ile) variant of SHANK2 (Q9UPX8)
T79I (p.Thr79Ile) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
T79I (p.Thr79Ile) variant details
- p.Thr79Ile
- rs2502057697
- ClinGen CA381960181
- ClinVar RCV003443421
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 23.80
- PolyPhen-2 0.63
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)