D107N (p.Asp107Asn) variant of F5 (Coagulation factor V)
D107N (p.Asp107Asn) in F5 (Coagulation factor V) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D107N (p.Asp107Asn) variant details
- p.Asp107Asn
- cosmic curated COSV63126
- 1000Genomes rs6019
- ESP rs6019
- ExAC rs6019
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.27
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.20
- EBI: Benign (in dbSNP:rs6019)
- UniProt: Benign (in dbSNP:rs6019)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available