V101I (p.Val101Ile) variant of SLC2A2 (P11168)
V101I (p.Val101Ile) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Monogenic diabetes; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V101I (p.Val101Ile) variant details
- p.Val101Ile
- rs1800572
- ClinGen CA2702728
- ClinVar RCV000245094
- ClinVar RCV000960501
- Benign/Likely benign
- Monogenic diabetes; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.46
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (Monogenic diabetes; not specified; not provided)
- EBI: Benign (in dbSNP:rs1800572)
- UniProt: Benign (in dbSNP:rs1800572)
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available