P13P (p.Pro13Pro) variant of SMO (Protein smoothened)
P13P (p.Pro13Pro) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P13P (p.Pro13Pro) variant details
- p.Pro13Pro
- rs2150637782
- gnomAD 7-129189190-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 11.00
- Most common in the South Asian population (allele frequency 0.00016)
- Structural context available
- Literature evidence available