P2A (p.Pro2Ala) variant of RB1 (P06400)
P2A (p.Pro2Ala) in RB1 (P06400) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P2A (p.Pro2Ala) variant details
- p.Pro2Ala
- gnomAD rs1328198608
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.64
- MetaLR 0.79
- MetaSVM 0.73
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available