V60A (p.Val60Ala) variant of FSHR (P23945)
V60A (p.Val60Ala) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V60A (p.Val60Ala) variant details
- p.Val60Ala
- 1000Genomes rs562762324
- ExAC rs562762324
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.41
- MetaLR 0.60
- MetaSVM -0.13
- CADD 20.00
- PolyPhen-2 0.04
- SIFT 0.09
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available