P25A (p.Pro25Ala) variant of SETD5 (Q9C0A6)
P25A (p.Pro25Ala) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- rs2040256204
- ClinGen CA351681028
- ClinVar RCV001196055
- Ensembl rs2040256204
- Uncertain significance
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- AlphaMissense 0.65
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (Intellectual disability-facial dysmorphism syndrome due to SETD5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available