N52K (p.Asn52Lys) variant of RAI1 (Retinoic acid-induced protein 1)
N52K (p.Asn52Lys) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N52K (p.Asn52Lys) variant details
- p.Asn52Lys
- gnomAD 17-17793104-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.49
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available