P58A (p.Pro58Ala) variant of PRRT2 (Q7Z6L0)
P58A (p.Pro58Ala) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P58A (p.Pro58Ala) variant details
- p.Pro58Ala
- 1000Genomes rs540005714
- ExAC rs540005714
- gnomAD rs540005714
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.04
- CADD 8.70
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available