T68A (p.Thr68Ala) variant of PICALM (Q13492)
T68A (p.Thr68Ala) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T68A (p.Thr68Ala) variant details
- p.Thr68Ala
- ExAC rs772279792
- gnomAD rs772279792
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.22
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available