H49Y (p.His49Tyr) variant of FLNC (Filamin-C)
H49Y (p.His49Tyr) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
H49Y (p.His49Tyr) variant details
- p.His49Tyr
- cosmic curated COSV57949
- gnomAD rs1469767984
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.52
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available