S4N (p.Ser4Asn) variant of BRCA1 (P38398)
S4N (p.Ser4Asn) in BRCA1 (P38398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- rs1490512430
- gnomAD 17-43050082-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 7.24
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.336
- Literature evidence available