A4T (p.Ala4Thr) variant of RNF215 (RING finger protein 215)
A4T (p.Ala4Thr) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- TOPMed rs1443636781
- gnomAD rs1443636781
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available