A37V (p.Ala37Val) variant of FAN1 (Fanconi-associated nuclease 1)
A37V (p.Ala37Val) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- TOPMed rs1369996886
- gnomAD rs1369996886
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.19
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available