K20N (p.Lys20Asn) variant of BRIP1 (Fanconi anemia group J protein)
K20N (p.Lys20Asn) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K20N (p.Lys20Asn) variant details
- p.Lys20Asn
- Ensembl rs2145864589
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.05
- CADD 25.00
- PolyPhen-2 0.88
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available