A14P (p.Ala14Pro) variant of RB1 (P06400)
A14P (p.Ala14Pro) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- Ensembl rs2138027266
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.16
- MetaLR 0.45
- MetaSVM -0.61
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available