L81V (p.Leu81Val) variant of AGTRAP (Q6RW13)
L81V (p.Leu81Val) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L81V (p.Leu81Val) variant details
- p.Leu81Val
- rs1172241429
- gnomAD 1-11747470-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 7.94
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available