T82A (p.Thr82Ala) variant of PICALM (Q13492)
T82A (p.Thr82Ala) in PICALM (Q13492) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T82A (p.Thr82Ala) variant details
- p.Thr82Ala
- rs780886080
- ClinGen CA6216180
- ClinVar RCV004503512
- ExAC rs780886080
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.27
- CADD 26.40
- PolyPhen-2 0.77
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available