T63M (p.Thr63Met) variant of PPP2R5D (Q14738)
T63M (p.Thr63Met) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T63M (p.Thr63Met) variant details
- p.Thr63Met
- rs370244516
- ClinGen CA3811770
- cosmic curated COSV57839
- ClinVar RCV002022735
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.10
- CADD 22.50
- PolyPhen-2 0.19
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available