Y12C (p.Tyr12Cys) variant of FBN2 (Fibrillin-2)
Y12C (p.Tyr12Cys) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- cosmic curated COSV10806
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available