T164N (p.Thr164Asn) variant of SHANK1 (Q9Y566)
T164N (p.Thr164Asn) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T164N (p.Thr164Asn) variant details
- p.Thr164Asn
- TOPMed rs1182320332
- gnomAD rs1182320332
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.11
- MetaLR 0.05
- MetaSVM -1.09
- CADD 24.10
- PolyPhen-2 0.72
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available