D86A (p.Asp86Ala) variant of NIPBL (Nipped-B-like protein)
D86A (p.Asp86Ala) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D86A (p.Asp86Ala) variant details
- p.Asp86Ala
- gnomAD 5-36958130-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available