T11A (p.Thr11Ala) variant of PICALM (Q13492)
T11A (p.Thr11Ala) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- ExAC rs776273405
- TOPMed rs776273405
- gnomAD rs776273405
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.18
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available