A5S (p.Ala5Ser) variant of AGTRAP (Q6RW13)
A5S (p.Ala5Ser) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 1-11736221-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.10
- MetaSVM -1.02
- CADD 16.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available