p.Ala21 Gly27del variant of PANK2 (Q9BZ23)
p.Ala21 Gly27del in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala21 Gly27del variant details
- rs2090075768
- gnomAD 20-3889486-TCGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 21.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available