A135T (p.Ala135Thr) variant of PICALM (Q13492)
A135T (p.Ala135Thr) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
A135T (p.Ala135Thr) variant details
- p.Ala135Thr
- gnomAD rs2095580084
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.56
- CADD 27.20
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available