M63V (p.Met63Val) variant of FAN1 (Fanconi-associated nuclease 1)
M63V (p.Met63Val) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
M63V (p.Met63Val) variant details
- p.Met63Val
- ExAC rs749431740
- gnomAD rs749431740
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.19
- CADD 9.96
- PolyPhen-2 0.03
- SIFT 0.23
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available