A39S (p.Ala39Ser) variant of AGTRAP (Q6RW13)
A39S (p.Ala39Ser) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- cosmic curated COSV58669
- gnomAD rs1642193054
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.19
- MetaSVM -0.76
- CADD 24.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available