P21A (p.Pro21Ala) variant of PRRT2 (Q7Z6L0)
P21A (p.Pro21Ala) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- TOPMed rs1394325988
- gnomAD rs1394325988
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.06
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available