T68S (p.Thr68Ser) variant of PICALM (Q13492)
T68S (p.Thr68Ser) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T68S (p.Thr68Ser) variant details
- p.Thr68Ser
- ExAC rs772279792
- gnomAD rs772279792
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.08
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available