K121N (p.Lys121Asn) variant of RHEB (GTP-binding protein Rheb)
K121N (p.Lys121Asn) in RHEB (GTP-binding protein Rheb) 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, published literature, and structural context.
K121N (p.Lys121Asn) variant details
- p.Lys121Asn
- gnomAD 7-151471411-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.22
- MetaLR 0.20
- MetaSVM -0.95
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available