S29Y (p.Ser29Tyr) variant of AGTRAP (Q6RW13)
S29Y (p.Ser29Tyr) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S29Y (p.Ser29Tyr) variant details
- p.Ser29Tyr
- rs768970322
- gnomAD 1-11746144-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.47
- CADD 5.74
- SIFT 0.19
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available