R3K (p.Arg3Lys) variant of PANK2 (Q9BZ23)
R3K (p.Arg3Lys) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R3K (p.Arg3Lys) variant details
- p.Arg3Lys
- gnomAD 20-3889108-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.73
- MetaSVM 0.06
- CADD 6.92
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available