L67V (p.Leu67Val) variant of AGTRAP (Q6RW13)
L67V (p.Leu67Val) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L67V (p.Leu67Val) variant details
- p.Leu67Val
- gnomAD 1-11747443-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 6.73
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available