R41Q (p.Arg41Gln) variant of RAF1 (P04049)
R41Q (p.Arg41Gln) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; not speci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs145611571
- ClinGen CA134693
- cosmic curated COSV10605
- ClinVar RCV000037673
- Conflicting interpretations
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; not speci
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.54
- MetaLR 0.32
- MetaSVM -0.47
- PolyPhen-2 0.90
- SIFT 0.04
- MutPred 0.36
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -1.03
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)