V66V (p.Val66Val) variant of NIPBL (Nipped-B-like protein)
V66V (p.Val66Val) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V66V (p.Val66Val) variant details
- p.Val66Val
- rs146033170
- gnomAD 5-36955605-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 8.96
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)