P53T (p.Pro53Thr) variant of PPP2R5D (Q14738)
P53T (p.Pro53Thr) in PPP2R5D (Q14738) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HJS1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P53T (p.Pro53Thr) variant details
- p.Pro53Thr
- ExAC rs757369209
- gnomAD rs757369209
- Pathogenic
- in HJS1
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.07
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.03
- CADD 8.30
- PolyPhen-2 0.01
- EBI: Pathogenic (in HJS1)
- UniProt: Pathogenic (in HJS1)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available