P24R (p.Pro24Arg) variant of RB1 (P06400)
P24R (p.Pro24Arg) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- gnomAD 13-48303983-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.27
- MetaLR 0.66
- MetaSVM -0.15
- CADD 18.40
- PolyPhen-2 0.99
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available