R41H (p.Arg41His) variant of TERT (Telomerase reverse transcriptase)
R41H (p.Arg41His) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- gnomAD rs1176288815
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.24
- MetaLR 0.76
- MetaSVM -0.03
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 7.7e-05)
- Structural context available