S25R (p.Ser25Arg) variant of MC4R (Melanocortin receptor 4)
S25R (p.Ser25Arg) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S25R (p.Ser25Arg) variant details
- p.Ser25Arg
- ExAC rs770469626
- gnomAD rs770469626
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -0.98
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available