A9P (p.Ala9Pro) variant of TERT (Telomerase reverse transcriptase)
A9P (p.Ala9Pro) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- cosmic curated COSV57245
- Ensembl rs2126692971
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.42
- MetaLR 0.73
- MetaSVM -0.07
- CADD 18.20
- PolyPhen-2 0.06
- SIFT 0.07
- Population evidence available
- Structural context available