M73T (p.Met73Thr) variant of SHANK1 (Q9Y566)
M73T (p.Met73Thr) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
M73T (p.Met73Thr) variant details
- p.Met73Thr
- ExAC rs749101925
- gnomAD rs749101925
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.30
- MetaLR 0.08
- MetaSVM -1.06
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available