I65T (p.Ile65Thr) variant of ADH1B (P00325)
I65T (p.Ile65Thr) in ADH1B (P00325) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I65T (p.Ile65Thr) variant details
- p.Ile65Thr
- rs41275699
- ClinGen CA3020051
- ClinVar RCV000973869
- 1000Genomes rs41275699
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.16
- CADD 19.40
- PolyPhen-2 0.18
- SIFT 0.04
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.013)
- Structural context available