T10K (p.Thr10Lys) variant of RARA (Retinoic acid receptor alpha)
T10K (p.Thr10Lys) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T10K (p.Thr10Lys) variant details
- p.Thr10Lys
- gnomAD 17-40331247-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.27
- CADD 20.40
- PolyPhen-2 0.03
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available