R62P (p.Arg62Pro) variant of FLNC (Filamin-C)
R62P (p.Arg62Pro) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R62P (p.Arg62Pro) variant details
- p.Arg62Pro
- gnomAD 7-128830822-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.60
- MetaLR 0.64
- MetaSVM 0.25
- CADD 23.80
- PolyPhen-2 0.29
- SIFT 0.09
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available