L40F (p.Leu40Phe) variant of AGTRAP (Q6RW13)
L40F (p.Leu40Phe) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- gnomAD 1-11747497-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available