V41A (p.Val41Ala) variant of PRRT2 (Q7Z6L0)
V41A (p.Val41Ala) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V41A (p.Val41Ala) variant details
- p.Val41Ala
- gnomAD 16-29813176-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0905
- REVEL 0.06
- CADD 5.64
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available