A2T (p.Ala2Thr) variant of PRRT2 (Q7Z6L0)
A2T (p.Ala2Thr) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- TOPMed rs1900055803
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.29
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available