M56V (p.Met56Val) variant of AGTRAP (Q6RW13)
M56V (p.Met56Val) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
M56V (p.Met56Val) variant details
- p.Met56Val
- cosmic curated COSV99041
- ESP rs144060195
- ExAC rs144060195
- TOPMed rs144060195
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.17
- MetaSVM -0.85
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 0.0026)
- Structural context available