S18S (p.Ser18Ser) variant of PANK2 (Q9BZ23)
S18S (p.Ser18Ser) in PANK2 (Q9BZ23) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- rs886056650
- gnomAD 20-3889154-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.24
- Population evidence available
- Structural context available
- Literature evidence available