T40A (p.Thr40Ala) variant of SHANK1 (Q9Y566)
T40A (p.Thr40Ala) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- TOPMed rs1307563282
- gnomAD rs1307563282
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.02
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available