Y3F (p.Tyr3Phe) variant of PPP2R5D (Q14738)
Y3F (p.Tyr3Phe) 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 0.34 / 1. The record also includes population frequency data and structural context.
Y3F (p.Tyr3Phe) variant details
- p.Tyr3Phe
- rs2150245534
- ClinGen CA364172508
- ClinVar RCV001576360
- Ensembl rs2150245534
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.19
- MetaLR 0.04
- MetaSVM -0.97
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available