T12R (p.Thr12Arg) variant of ATP13A2 (Q9NQ11)
T12R (p.Thr12Arg) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in KRS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T12R (p.Thr12Arg) variant details
- p.Thr12Arg
- ESP rs151117874
- ExAC rs151117874
- TOPMed rs151117874
- gnomAD rs151117874
- Likely benign
- in KRS
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.20
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.36
- EBI: Likely benign (in KRS)
- UniProt: Likely benign (in KRS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available