L69V (p.Leu69Val) variant of NIPBL (Nipped-B-like protein)
L69V (p.Leu69Val) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L69V (p.Leu69Val) variant details
- p.Leu69Val
- Ensembl rs776899302
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 0.65
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available