G31R (p.Gly31Arg) variant of PANK2 (Q9BZ23)
G31R (p.Gly31Arg) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and published literature.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- rs1410873147
- gnomAD 20-3889191-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.73
- MetaSVM 0.02
- CADD 2.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Literature evidence available