A11D (p.Ala11Asp) variant of RB1 (P06400)
A11D (p.Ala11Asp) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- gnomAD 13-48303944-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.13
- MetaLR 0.55
- MetaSVM -0.25
- CADD 18.50
- PolyPhen-2 0.10
- SIFT 0.16
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available