L38V (p.Leu38Val) variant of AGTRAP (Q6RW13)
L38V (p.Leu38Val) in AGTRAP (Q6RW13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- rs753525447
- ClinGen CA338424940
- ClinVar RCV004242950
- ExAC rs753525447
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.16
- MetaSVM -0.86
- CADD 23.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available