M56L (p.Met56Leu) variant of AGTRAP (Q6RW13)
M56L (p.Met56Leu) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
M56L (p.Met56Leu) variant details
- p.Met56Leu
- gnomAD 1-11747543-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 19.40
- PolyPhen-2 0.06
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available