S19R (p.Ser19Arg) variant of RNF207 (RING finger protein 207)
S19R (p.Ser19Arg) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S19R (p.Ser19Arg) variant details
- p.Ser19Arg
- gnomAD 1-6206590-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.03
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available