R41Q (p.Arg41Gln) variant of AKT1 (P31749)
R41Q (p.Arg41Gln) in AKT1 (P31749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cowden syndrome 6; Familial cancer of breast; Proteus syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs766000895
- ClinGen CA7374899
- ClinVar RCV001227660
- ClinVar RCV005012642
- Uncertain significance
- Cowden syndrome 6; Familial cancer of breast; Proteus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.14
- ClinVar: Uncertain significance (Cowden syndrome 6; Familial cancer of breast; Proteus syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)