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 0.42 / 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 0.422
- ESM-1b 0.22
- AlphaMissense 0.27
- CADD 9.18
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -1.2
- Literature evidence available