S7F (p.Ser7Phe) variant of CDKN1B (P46527)
S7F (p.Ser7Phe) in CDKN1B (P46527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- gnomAD 12-12717859-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.62
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available