H8P (p.His8Pro) variant of SETD1B (Q9UPS6)
H8P (p.His8Pro) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H8P (p.His8Pro) variant details
- p.His8Pro
- rs773794483
- ClinGen CA6838733
- cosmic curated COSV57349
- ClinVar RCV003390318
- Benign/Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Benign/Likely benign (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.083)
- Structural context available