K4N (p.Lys4Asn) variant of RB1 (P06400)
K4N (p.Lys4Asn) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- Ensembl rs2138027015
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.41
- MetaLR 0.80
- MetaSVM 0.85
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available