N165T (p.Asn165Thr) variant of SHANK1 (Q9Y566)
N165T (p.Asn165Thr) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N165T (p.Asn165Thr) variant details
- p.Asn165Thr
- ExAC rs774658521
- gnomAD rs774658521
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.14
- MetaLR 0.07
- MetaSVM -1.06
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available