L40S (p.Leu40Ser) variant of AGTRAP (Q6RW13)
L40S (p.Leu40Ser) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L40S (p.Leu40Ser) variant details
- p.Leu40Ser
- gnomAD rs1398753690
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.25
- MetaSVM -0.60
- CADD 28.70
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available