T68N (p.Thr68Asn) variant of PICALM (Q13492)
T68N (p.Thr68Asn) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T68N (p.Thr68Asn) variant details
- p.Thr68Asn
- ExAC rs748465366
- gnomAD rs748465366
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.0005)
- Structural context available