A16D (p.Ala16Asp) variant of RB1 (P06400)
A16D (p.Ala16Asp) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- gnomAD 13-48303959-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- MetaLR 0.50
- MetaSVM -0.52
- CADD 14.30
- PolyPhen-2 0.16
- SIFT 0.43
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available