S20Y (p.Ser20Tyr) variant of PANK2 (Q9BZ23)
S20Y (p.Ser20Tyr) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S20Y (p.Ser20Tyr) variant details
- p.Ser20Tyr
- rs867957905
- gnomAD 20-3889159-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.17
- ESM-1b 0.39
- AlphaMissense 0.11
- MetaLR 0.66
- MetaSVM -0.15
- CADD 5.62
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available