V99F (p.Val99Phe) variant of NIPBL (Nipped-B-like protein)
V99F (p.Val99Phe) in NIPBL (Nipped-B-like protein) 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, published literature, and structural context.
V99F (p.Val99Phe) variant details
- p.Val99Phe
- gnomAD 5-36958168-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.74
- CADD 19.80
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available