T12I (p.Thr12Ile) variant of POT1 (Q9NUX5)
T12I (p.Thr12Ile) in POT1 (Q9NUX5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T12I (p.Thr12Ile) variant details
- p.Thr12Ile
- NCI-TCGA Cosmic COSV6292
- Ensembl rs2116629866
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.32
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available