T9K (p.Thr9Lys) variant of RB1 (P06400)
T9K (p.Thr9Lys) 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.
T9K (p.Thr9Lys) variant details
- p.Thr9Lys
- gnomAD 13-48303938-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.12
- MetaLR 0.46
- MetaSVM -0.66
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available