L104F (p.Leu104Phe) variant of SHANK1 (Q9Y566)
L104F (p.Leu104Phe) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L104F (p.Leu104Phe) variant details
- p.Leu104Phe
- cosmic curated COSV53244
- gnomAD rs2089070348
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.23
- MetaLR 0.09
- MetaSVM -0.98
- CADD 26.70
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available