Q71R (p.Gln71Arg) variant of NIPBL (Nipped-B-like protein)
Q71R (p.Gln71Arg) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q71R (p.Gln71Arg) variant details
- p.Gln71Arg
- gnomAD 5-36955619-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.64
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available