S2A (p.Ser2Ala) variant of RNF207 (RING finger protein 207)
S2A (p.Ser2Ala) in RNF207 (RING finger protein 207) 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.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- gnomAD 1-6206539-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.02
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available