S65I (p.Ser65Ile) variant of KRAS (GTPase KRas)
S65I (p.Ser65Ile) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes experimental measurements, published literature, and structural context.
S65I (p.Ser65Ile) variant details
- p.Ser65Ile
- rs1555194026
- ClinGen CA384152083
- cosmic curated COSV55620
- ClinVar RCV000505640
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- AlphaMissense 0.97
- MetaLR 0.60
- MetaSVM 0.20
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.45
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- binding fitness from KRAS-DARPin K27 bindingPCA of KRAS block2: score -0.585
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)