L35H (p.Leu35His) variant of RARA (Retinoic acid receptor alpha)
L35H (p.Leu35His) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L35H (p.Leu35His) variant details
- p.Leu35His
- gnomAD 17-40331322-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.62
- CADD 25.80
- PolyPhen-2 0.55
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available