S29S (p.Ser29Ser) variant of PLAU (P00749)
S29S (p.Ser29Ser) in PLAU (P00749) is a protein-truncating 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.
S29S (p.Ser29Ser) variant details
- p.Ser29Ser
- rs774129403
- gnomAD 10-73912216-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.10
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -0.98
- CADD 4.09
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available
- Literature evidence available