A5V (p.Ala5Val) variant of AGTRAP (Q6RW13)
A5V (p.Ala5Val) in AGTRAP (Q6RW13) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- NCI-TCGA Cosmic COSV5866
- cosmic curated COSV58669
- TOPMed rs1641892490
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.10
- MetaSVM -1.04
- CADD 21.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available