T36I (p.Thr36Ile) variant of CCNE1 (G1/S-specific cyclin-E1)
T36I (p.Thr36Ile) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T36I (p.Thr36Ile) variant details
- p.Thr36Ile
- gnomAD 19-29812772-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.05
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available