A4T (p.Ala4Thr) variant of RNF207 (RING finger protein 207)
A4T (p.Ala4Thr) 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 and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- TOPMed rs1243619480
- gnomAD rs1243619480
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.06
- CADD 24.40
- PolyPhen-2 0.21
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available