R14V (p.Arg14Val) variant of FAN1 (Fanconi-associated nuclease 1)
R14V (p.Arg14Val) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R14V (p.Arg14Val) variant details
- p.Arg14Val
- rs764248199
- gnomAD 15-30904702-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 23.40
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available