N37K (p.Asn37Lys) variant of BRIP1 (Fanconi anemia group J protein)
N37K (p.Asn37Lys) in BRIP1 (Fanconi anemia group J protein) 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 0.28 / 1. The record also includes population frequency data and structural context.
N37K (p.Asn37Lys) variant details
- p.Asn37Lys
- Ensembl rs2145852604
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.20
- CADD 18.30
- PolyPhen-2 0.91
- SIFT 0.05
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available