P16S (p.Pro16Ser) variant of PANK2 (Q9BZ23)
P16S (p.Pro16Ser) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- rs1483678197
- gnomAD 20-3889146-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.67
- MetaSVM -0.07
- CADD 17.96
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available