P50T (p.Pro50Thr) variant of PRRT2 (Q7Z6L0)
P50T (p.Pro50Thr) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P50T (p.Pro50Thr) variant details
- p.Pro50Thr
- gnomAD 16-29813202-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.07
- CADD 19.20
- PolyPhen-2 0.13
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available