T102A (p.Thr102Ala) variant of PICALM (Q13492)
T102A (p.Thr102Ala) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T102A (p.Thr102Ala) variant details
- p.Thr102Ala
- ExAC rs779466539
- gnomAD rs779466539
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.36
- CADD 23.40
- PolyPhen-2 0.38
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available