P114T (p.Pro114Thr) variant of KRIT1 (O00522)
P114T (p.Pro114Thr) in KRIT1 (O00522) 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 0.77 / 1. The record also includes population frequency data and structural context.
P114T (p.Pro114Thr) variant details
- p.Pro114Thr
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10038
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.76
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available