V63A (p.Val63Ala) variant of GRN (Progranulin)
V63A (p.Val63Ala) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V63A (p.Val63Ala) variant details
- p.Val63Ala
- gnomAD 17-44349475-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0994
- REVEL 0.12
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available