V21L (p.Val21Leu) variant of ATP6V1A (P38606)
V21L (p.Val21Leu) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- ExAC rs748725125
- gnomAD rs748725125
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.79
- CADD 24.00
- PolyPhen-2 0.25
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available