G13S (p.Gly13Ser) variant of RARA (Retinoic acid receptor alpha)
G13S (p.Gly13Ser) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- gnomAD 17-40331255-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.29
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available