A93V (p.Ala93Val) variant of TERF2 (Q15554)
A93V (p.Ala93Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A93V (p.Ala93Val) variant details
- p.Ala93Val
- cosmic curated COSV54748
- ExAC rs767090688
- TOPMed rs767090688
- gnomAD rs767090688
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.03
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available