M2T (p.Met2Thr) variant of FAN1 (Fanconi-associated nuclease 1)
M2T (p.Met2Thr) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
M2T (p.Met2Thr) variant details
- p.Met2Thr
- rs143294144
- ClinGen CA7449950
- ClinVar RCV002921881
- ClinVar RCV003973539
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.52
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available